Linked Data
ClinVar Variation Id:
725941
dbSNP Id:
rs202104460
ExAC:
4:6302695 G / A
gnomAD v2:
4-6302695-G-A
gnomAD v3:
4-6300968-G-A
gnomAD v4:
4-6300968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300968G>A , CM000666.2:g.6300968G>A | GRCh38 |
| NC_000004.11:g.6302695G>A , CM000666.1:g.6302695G>A | GRCh37 |
| NC_000004.10:g.6353596G>A | NCBI36 |
| NG_011700.1:g.36119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1209G>A | ENSP00000507852.1:p.Glu403= | |
| ENST00000683395.1:c.1150G>A | ||
| ENST00000684087.1:c.1173G>A | ENSP00000506978.1:p.Glu391= | |
| ENST00000506362.2:c.924G>A | ENSP00000424103.2:p.Glu308= | |
| ENST00000673642.1:c.832G>A | ENSP00000501242.1:p.Ala278Thr | |
| ENST00000673991.1:c.1209G>A | ENSP00000501033.1:p.Glu403= | |
| ENST00000226760.5:c.1173G>A MANE Select | ENSP00000226760.1:p.Glu391= | |
| ENST00000503569.5:c.1173G>A | ENSP00000423337.1:p.Glu391= | |
| ENST00000507765.1:n.1358G>A | ||
| NM_001145853.1:c.1173G>A | NP_001139325.1:p.Glu391= | |
| NM_006005.3:c.1173G>A MANE Select | NP_005996.2:p.Glu391= | |
| XM_017008586.1:c.1182G>A | XP_016864075.1:p.Glu394= |